الرئيسية
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من طرف al_zoubi الثلاثاء يوليو 08, 2008 12:53 pm Symptoms 
Infantile SMA is the most severe form. Some of the symptoms include:
muscle weakness
poor muscle tone
weak cry
limpness or a tendency to flop
difficulty sucking or swallowing
accumulation of secretions in the lungs or throat
legs that tend to be weaker than the arms
hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells
feeding difficulties
increased susceptibility to respiratory tract infections
developmental milestones, such as lifting the head or sitting up, can't be reached.
In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases. Infants with Type 1 SMA have a life expectancy of less than two years, however, some grow to be adults. Intellectual and later, sexual functions, are unaffected by SMA.
Diagnosis
In order to be diagnosed with Spinal muscular atrophy, symptoms need to be present. In most cases a diagnosis can be made by the SMN gene test, which determines whether there is at least one copy of the SMN1 gene by looking for its unique sequences (that distinguish it from the almost identical SMN2) in exons 7 and 8. In some cases, when the SMN gene test is not possible or does not show any abnormality, other tests such as an EMG electromyography (EMG) or muscle biopsy may be indicated.
Infantile SMA is the most severe form. Some of the symptoms include:
muscle weakness
poor muscle tone
weak cry
limpness or a tendency to flop
difficulty sucking or swallowing
accumulation of secretions in the lungs or throat
legs that tend to be weaker than the arms
hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells
feeding difficulties
increased susceptibility to respiratory tract infections
developmental milestones, such as lifting the head or sitting up, can't be reached.
In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases. Infants with Type 1 SMA have a life expectancy of less than two years, however, some grow to be adults. Intellectual and later, sexual functions, are unaffected by SMA.
Diagnosis
In order to be diagnosed with Spinal muscular atrophy, symptoms need to be present. In most cases a diagnosis can be made by the SMN gene test, which determines whether there is at least one copy of the SMN1 gene by looking for its unique sequences (that distinguish it from the almost identical SMN2) in exons 7 and 8. In some cases, when the SMN gene test is not possible or does not show any abnormality, other tests such as an EMG electromyography (EMG) or muscle biopsy may be indicated.
